L63I (p.Leu63Ile) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L63I (p.Leu63Ile) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L63I (p.Leu63Ile) variant details
- p.Leu63Ile
- rs750369010
- ClinGen CA2944531
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10053
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -0.99
- CADD 0.03
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available